Resultados globales: 3 registros encontrados en 0.02 segundos.
Artículos, Encontrados 3 registros
Artículos Encontrados 3 registros  
1.
14 p, 2.3 MB Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE / Yadak, Rana (Department of Hematology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Cabrera-Pérez, Raquel (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Bugiani, Marianna (Department of Pathology, VU University Medical Center, Amsterdam, the Netherlands) ; Haeck, Joost C. (Department of Radiology & Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Huston, Marshall W. (Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Bogaerts, Elly (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Goffart, Steffi (Department of Biology, University of Eastern Finland, Joensuu, Finland) ; Jacobs, Edwin H. (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Stok, Merel (Department of Pediatrics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Leonardelli, Lorena (San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Milan, Italy) ; Biasco, Luca (University College of London (UCL), Great Ormond Street Institute of Child Health (ICH), London, UK) ; Verdijk, Robert M. (Department of Pathology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Bernsen, Monique R. (Department of Radiology & Nuclear Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Ruijter, George (Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Martí Seves, Ramon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Wagemaker, Gerard (Raisa Gorbacheva Memorial Research Institute for Pediatric Oncology and Hematology, Saint Petersburg, Russia) ; van Til, Niek P. (Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, the Netherlands) ; de Coo, Irenaeus F.M. (Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands) ; Universitat Autònoma de Barcelona
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic accumulation of thymidine (d-Thd) and deoxyuridine (d-Urd) and characterized by early-onset neurological and gastrointestinal symptoms. [...]
2018 - 10.1016/j.omtm.2018.01.001
Molecular therapy, Vol. 8 (january 2018) , p. 152-165  
2.
8 p, 607.9 KB Limited dCTP Availability Accounts for Mitochondrial DNA Depletion in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) / González-Vioque, Emiliano (Hospital Universitary Vall d'Hebron. Institut de Recerca) ; Torres-Torronteras, Javier (Hospital Universitary Vall d'Hebron. Institut de Recerca) ; Andreu, Antoni L. (Hospital Universitary Vall d'Hebron. Institut de Recerca) ; Martí Seves, Ramon (Hospital Universitary Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a severe human disease caused by mutations in TYMP, the gene encoding thymidine phosphorylase (TP). It belongs to a broader group of disorders characterized by a pronounced reduction in mitochondrial DNA (mtDNA) copy number in one or more tissues. [...]
2011 - 10.1371/journal.pgen.1002035
PLoS Genetics, Vol. 7 (march 2011)  
3.
22 p, 3.3 MB The G1/S Specific Cyclin D2 Is a Regulator of HIV-1 Restriction in Non-proliferating Cells / Badia, Roger (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Pujantell, Maria (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Riveira Muñoz, Eva (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Puig, Teresa (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Torres Torronteras, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martí Seves, Ramon (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Clotet, Bonaventura (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Ampudia, Rosa Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Vives Pi, Marta (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ; Esté, José (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ; Ballana, Ester (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa)
Macrophages are a heterogeneous cell population strongly influenced by differentiation stimuli that become susceptible to HIV-1 infection after inactivation of the restriction factor SAMHD1 by cyclin-dependent kinases (CDK). [...]
2016 - 10.1371/journal.ppat.1005829
PLoS pathogens, Vol. 12 Núm. 8 (August 2016)  

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